Incidental Mutation 'IGL01016:Mep1a'
ID54049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mep1a
Ensembl Gene ENSMUSG00000023914
Gene Namemeprin 1 alpha
SynonymsMep-1a, meprin A alpha-subunit, Mep1, meprin alpha, Mep-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01016
Quality Score
Status
Chromosome17
Chromosomal Location43474324-43502812 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43479084 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 445 (E445G)
Ref Sequence ENSEMBL: ENSMUSP00000113838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024707] [ENSMUST00000117137]
PDB Structure
[]
Predicted Effect probably benign
Transcript: ENSMUST00000024707
AA Change: E458G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000024707
Gene: ENSMUSG00000023914
AA Change: E458G

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
ZnMc 83 222 1.16e-41 SMART
MAM 276 445 5.38e-61 SMART
MATH 445 590 6.9e-17 SMART
EGF 687 724 1.35e-2 SMART
transmembrane domain 727 749 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000117137
AA Change: E445G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000113838
Gene: ENSMUSG00000023914
AA Change: E445G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
ZnMc 70 209 1.16e-41 SMART
MAM 263 432 5.38e-61 SMART
MATH 432 577 6.9e-17 SMART
EGF 674 711 1.35e-2 SMART
transmembrane domain 714 736 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased litter size, reduced LPS-induced renal injury and bladder inflammation, and increased susceptibility to sodium dextran sulfate-induced colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh7 G A 1: 110,108,956 probably null Het
Dennd1c T C 17: 57,066,839 I575V probably damaging Het
Focad G A 4: 88,392,015 V1394I possibly damaging Het
Gldc G A 19: 30,133,493 S570F possibly damaging Het
Gm12695 T A 4: 96,757,947 Y286F probably benign Het
Grid1 C T 14: 34,822,639 Q56* probably null Het
Il7r A T 15: 9,510,208 V253E probably damaging Het
Iqgap3 T C 3: 88,107,560 L861P probably damaging Het
Kcnc3 C T 7: 44,595,386 R367W probably damaging Het
Lipt1 T C 1: 37,875,183 Y107H probably damaging Het
Mpo A G 11: 87,797,610 probably null Het
Nme5 T C 18: 34,578,659 probably null Het
Olfr281 T A 15: 98,456,305 probably benign Het
Olfr666 A T 7: 104,893,036 N197K probably damaging Het
Olfr921 T A 9: 38,775,441 F62Y probably damaging Het
Papolg A T 11: 23,885,570 N83K possibly damaging Het
Picalm A T 7: 90,161,318 D111V probably damaging Het
Ppargc1a T A 5: 51,498,031 probably null Het
Rnh1 G T 7: 141,164,496 probably benign Het
Rpgrip1 T C 14: 52,145,836 Y576H probably damaging Het
Sobp T A 10: 43,022,878 Y237F probably damaging Het
Spink5 T C 18: 44,007,644 Y637H probably damaging Het
St18 G T 1: 6,844,323 G797V probably damaging Het
Tbx20 T C 9: 24,750,321 D293G probably damaging Het
Tcl1b1 A T 12: 105,164,404 R49* probably null Het
Tnfsf13b A G 8: 10,031,612 Q258R probably damaging Het
Vmn1r223 A T 13: 23,250,067 Y277F probably damaging Het
Wdr62 T C 7: 30,254,251 T146A probably benign Het
Zfp236 G A 18: 82,668,690 A241V probably benign Het
Zfp318 T C 17: 46,400,077 S909P probably damaging Het
Other mutations in Mep1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02814:Mep1a APN 17 43477221 missense probably benign
IGL03000:Mep1a APN 17 43474990 missense probably benign
IGL03335:Mep1a APN 17 43477173 missense possibly damaging 0.63
IGL03410:Mep1a APN 17 43478095 splice site probably null
PIT4544001:Mep1a UTSW 17 43482287 missense probably damaging 1.00
R0127:Mep1a UTSW 17 43497886 splice site probably benign
R0306:Mep1a UTSW 17 43502643 splice site probably benign
R0329:Mep1a UTSW 17 43497898 critical splice donor site probably null
R0330:Mep1a UTSW 17 43497898 critical splice donor site probably null
R0358:Mep1a UTSW 17 43478950 missense possibly damaging 0.92
R0667:Mep1a UTSW 17 43478190 missense probably benign 0.06
R1101:Mep1a UTSW 17 43491693 missense probably benign 0.03
R1458:Mep1a UTSW 17 43491672 missense probably damaging 1.00
R1525:Mep1a UTSW 17 43491636 missense probably damaging 1.00
R1992:Mep1a UTSW 17 43502682 missense probably benign
R2014:Mep1a UTSW 17 43497906 missense probably benign 0.01
R2212:Mep1a UTSW 17 43477263 missense probably benign 0.02
R3946:Mep1a UTSW 17 43475041 nonsense probably null
R4400:Mep1a UTSW 17 43475006 missense possibly damaging 0.77
R4598:Mep1a UTSW 17 43491578 critical splice donor site probably null
R4616:Mep1a UTSW 17 43486241 missense possibly damaging 0.81
R4688:Mep1a UTSW 17 43482248 missense possibly damaging 0.89
R5085:Mep1a UTSW 17 43478144 missense probably damaging 0.99
R5355:Mep1a UTSW 17 43477146 missense probably damaging 0.98
R5832:Mep1a UTSW 17 43478164 missense probably benign 0.27
R5833:Mep1a UTSW 17 43478164 missense probably benign 0.27
R5834:Mep1a UTSW 17 43478164 missense probably benign 0.27
R5835:Mep1a UTSW 17 43478164 missense probably benign 0.27
R6280:Mep1a UTSW 17 43502392 missense probably damaging 1.00
R6340:Mep1a UTSW 17 43479058 missense probably benign 0.00
R6340:Mep1a UTSW 17 43479233 missense probably benign 0.00
R6934:Mep1a UTSW 17 43482230 missense probably damaging 0.99
R7247:Mep1a UTSW 17 43475104 missense possibly damaging 0.67
Z1088:Mep1a UTSW 17 43491596 missense probably damaging 1.00
Posted On2013-06-28